Genetic Disorders

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Genetic Disorders

Phenylketonuria

Recessive genetic disease that prevents the metabolism of phenylalanine, accumulating it in the body and causing severe neurological damage.

Treatment

Is controlled with a strict diet, avoiding foods with phenylalanine such as meats, dairy products and products with aspartame.

It is detected in newborns through biochemical tests

Phenotype

Musty odor in breath, skin or urine, caused by too much phenylalanine in the body

Skin rashes, such as eczema

Unusually small head size (microcephaly)

Children with this condition usually have a lighter complexion, hair and eyes

Genotype

Phenylketonuria (PKU) is caused by variants in the PAH gene, which encodes the enzyme phenylalanine hydroxylase (PAH) in the chromosome 12. PAH is mainly expressed in the liver.